ClinVar Miner

Submissions for variant NM_015267.4(CUX2):c.4414G>C (p.Val1472Leu)

gnomAD frequency: 1.00000  dbSNP: rs6490073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001661339 SCV001876452 benign Developmental and epileptic encephalopathy, 67 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001694156 SCV001909474 benign not provided 2019-09-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001694156 SCV005231463 benign not provided criteria provided, single submitter not provided

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